"Myriad Genetics, Inc."[submitter] AND "NTHL1"[gene] - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620182	NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	NTHL1 (Q279* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 2673941	NM_002528.7(NTHL1):c.796_808del (p.Leu266fs)	NTHL1 (L156fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2673807	NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)	NTHL1 (E159* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3	GPathogenic
Select item 545891	NM_002528.7(NTHL1):c.795del (p.Glu265fs)	NTHL1 (E208fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GLikely pathogenic
Select item 2673946	NM_002528.7(NTHL1):c.786_791+20del	NTHL1	Deletion (splice donor variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 639573	NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	NTHL1 (W151* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 2673812	NM_002528.7(NTHL1):c.763dup (p.Arg255fs)	NTHL1 (R145fs +2 more)	Duplication (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673970	NM_002528.7(NTHL1):c.763del (p.Arg255fs)	NTHL1 (R145fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 1076395	NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter)	NTHL1 (K136* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 2673822	NM_002528.7(NTHL1):c.730_731del (p.Thr244fs)	NTHL1 (T134fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673810	NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)	NTHL1 (W133* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 2673818	NM_002528.7(NTHL1):c.716del (p.Asn239fs)	NTHL1 (N129fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 1515221	NM_002528.7(NTHL1):c.709dup (p.Ile237fs)	NTHL1 (I237fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 218092	NM_002528.7(NTHL1):c.685+1G>A	NTHL1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1484387	NM_002528.7(NTHL1):c.675_676del (p.Ser226fs)	NTHL1 (S169fs +2 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 2673809	NM_002528.7(NTHL1):c.668del (p.Gly223fs)	NTHL1 (G113fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2020379	NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)	NTHL1 (W222* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1386054	NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln)	NTHL1 (K102Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1515250	NM_002528.7(NTHL1):c.625_626del (p.Val209fs)	NTHL1 (V209fs +2 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 3 +1 more	GPathogenic/Likely pathogenic
Select item 3254299	NM_002528.7(NTHL1):c.618del (p.Pro207fs)	NTHL1 (P150fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 655543	NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	NTHL1 (E145* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1452364	NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter)	NTHL1 (Q190* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2673805	NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)	NTHL1 (Q132* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673808	NM_002528.7(NTHL1):c.559_562del (p.Ile187fs)	NTHL1 (I130fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673821	NM_002528.7(NTHL1):c.542del (p.Ile181fs)	NTHL1 (I124fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 1381420	NM_002528.7(NTHL1):c.526-1G>T	NTHL1	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 3 +1 more	GPathogenic/Likely pathogenic
Select item 665971	NM_002528.7(NTHL1):c.526-1G>A	NTHL1	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 3148439	NM_002528.7(NTHL1):c.525+3G>A	NTHL1	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 3	GLikely benign
Select item 2169584	NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)	NTHL1 (W64* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1068685	NM_002528.7(NTHL1):c.510del (p.Val171fs)	NTHL1 (V171fs +1 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 2673819	NM_002528.7(NTHL1):c.477_480del (p.Asp160fs)	NTHL1 (D160fs +1 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 654258	NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	NTHL1 (Q158* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2135297	NM_002528.7(NTHL1):c.469del (p.Leu157fs)	NTHL1 (L157fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2673814	NM_002528.7(NTHL1):c.452_462del (p.Leu151fs)	NTHL1 (L151fs +1 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 651377	NM_002528.7(NTHL1):c.460del (p.Asp154fs)	NTHL1 (D154fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 647096	NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	NTHL1 (R35* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1741266	NM_002528.7(NTHL1):c.428dup (p.Met143fs)	NTHL1 (M33fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 1415037	NM_002528.7(NTHL1):c.418dup (p.Ala140fs)	NTHL1 (A140fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 652003	NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)	NTHL1 (Q27* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 665291	NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)	NTHL1 (S131fs +1 more)	Microsatellite (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 645235	NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)	NTHL1 (Y12* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 644578	NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)	NTHL1 (Y12* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 644885	NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)	NTHL1 (R121fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2673811	NM_002528.7(NTHL1):c.357dup (p.Arg120fs)	NTHL1 (R10fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 650459	NM_002528.7(NTHL1):c.354+2T>C	NTHL1	Single nucleotide variant (intron variant +1 more)	Familial adenomatous polyposis 3 +1 more	GLikely pathogenic
Select item 2673813	NM_002528.7(NTHL1):c.353dup (p.Val119fs)	NTHL1 (S119fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 660624	NM_002528.7(NTHL1):c.350dup (p.Val119fs)	NTHL1 (S119fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 824156	NM_002528.7(NTHL1):c.350del (p.Pro117fs)	NTHL1 (P117fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 2673803	NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)	NTHL1 (E108*)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673815	NM_002528.7(NTHL1):c.305_315del (p.Val102fs)	NTHL1 (V102fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3148701	NM_002528.7(NTHL1):c.288del (p.Asn96fs)	NTHL1 (N96fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3148665	NM_002528.7(NTHL1):c.199_284del (p.Lys67fs)	NTHL1 (K67fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 1070434	NM_002528.7(NTHL1):c.265dup (p.Val89fs)	NTHL1 (V89fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 652924	NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter)	NTHL1 (Q87*)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 1405525	NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)	NTHL1 (Q86*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 192319	NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	NTHL1 (Q82*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 821502	NM_002528.7(NTHL1):c.232del (p.Val78fs)	NTHL1 (V78fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2025416	NM_002528.7(NTHL1):c.226del (p.Val76fs)	NTHL1 (V76fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 545885	NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	NTHL1 (A71fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 545879	NM_002528.7(NTHL1):c.203del (p.Gly68fs)	NTHL1 (G68fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 2431314	NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)	NTHL1 (K67* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3	GPathogenic/Likely pathogenic
Select item 2431325	NM_002528.7(NTHL1):c.185del (p.Gly62fs)	NTHL1 (A3fs +1 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2889846	NM_002528.7(NTHL1):c.167_168del (p.Leu56fs)	NTHL1 (L56fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 863401	NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)	NTHL1 (R55fs)	Microsatellite (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1075052	NM_002528.7(NTHL1):c.160_161del (p.Gln54fs)	NTHL1 (Q54fs)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 662775	NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)	NTHL1 (Q54*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1776794	NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)	NTHL1	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 653175	NM_002528.7(NTHL1):c.116-1G>A	NTHL1	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 2065396	NM_002528.7(NTHL1):c.116-2A>C	NTHL1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2677384	NM_002528.7(NTHL1):c.115+2T>G	NTHL1	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 656884	NM_002528.7(NTHL1):c.115+1G>A	NTHL1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1074540	NM_002528.7(NTHL1):c.84del (p.Pro30fs)	NTHL1 (P30fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2673816	NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs)	NTHL1 (E27fs)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673817	NM_002528.7(NTHL1):c.48_60dup (p.Pro21fs)	NTHL1 (P21fs)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3254378	NM_002528.7(NTHL1):c.40_59del (p.Ser14fs)	NTHL1 (S14fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3254240	NM_002528.7(NTHL1):c.55del (p.Ala19fs)	NTHL1 (A19fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673804	NM_002528.7(NTHL1):c.34_53dup (p.Pro21fs)	NTHL1 (P21fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3148675	NM_002528.7(NTHL1):c.26_29delinsCGGAG (p.Leu9fs)	NTHL1 (L9fs)	Indel (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 1403427	NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter)	NTHL1 (L4*)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 2673806	NM_002528.7(NTHL1):c.-9G>T	NTHL1	Single nucleotide variant (5 prime UTR variant)	Familial adenomatous polyposis 3	GPathogenic

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Items: 80